Endocrine Abstracts

Introduction: Osteogenesis imperfecta (OI) is a genetic, heterogeneous, connective tissue disorder most commonly caused by mutations in type I collagen genes. A hallmark of disease is frequent fractures that are precipitated by minimal trauma. There are limited data on the impact of OI on non-skeletal outcomes across the lifecourse. We present cross-sectional data of one of the largest single centre patient cohorts of OI in adulthood (n=186).The aim of this study was to review the current clinical practice for management and outcomes of OI in adults to inform development of prospective registries and specialist services.

Methods: Patients were identified by a health informatics search and data were collected retrospectively by reviewing patient electronic health records.

Results: One hundred and eighty-six patients with OI (56% female and 44% male) were seen in metabolic bone clinic. Median follow up was 4.7 years. OI was classified as type 1 (n=63), type 3 (n=20), type 4 (n=11), type 5 (n=1) and overlap (n=15). 76 cases were unclassified. 40 patients had genetic confirmation of diagnosis. The majority of fractures involved long bones. Amongst the treatment options, bisphosphonates were the first line treatment used. 57 (31%) patients had diagnosis of dentinogenesis imperfecta. The phenotype in 29 patients overlapped other connective tissue diseases (Marfan’s, Ehler-Danlos and hypermobility) and further molecular testing may help to resolve diagnostic uncertainties. 49 patients had documented evidence of hearing impairment.125 (67%) were functionally independent. There were 7 reported cardio-respiratory diagnoses (valvular and ischaemic heart disease). There were 6 deaths in the cohort.

Conclusions: OI is associated with a number of non-skeletal co-morbidities. We are using this analysis to further develop our collaborative multi-disciplinary service. Prospective evaluation is vital to determine frequency and severity of these conditions, impact on patient quality of life and to inform best practice with regards to surveillance and management.